A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2231449



Internal ID17835675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:23673999..23776683hg38UCSC Ensembl
Innerchr20:23654636..23757320hg19UCSC Ensembl
Innerchr20:23602636..23705320hg18UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38102685
hg19102685
hg18102685
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965862
Supporting Variants
SamplesHGDP00998
Known GenesCST1, CST4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2231449
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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